Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_1001958 |
Description | A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures. | Trait category |
Cancer
|
Mapped term | NCIt:C105555 |
Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000352 (PRS_HGS) |
PGP000117 | Barnes DR et al. Genet Med (2020) |
High grade serous ovarian cancer | high grade ovarian serous adenocarcinoma | 22 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000352/ScoringFiles/PGS000352.txt.gz |
PGS Performance Metric ID (PPM) |
Evaluated Score |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|---|
PPM001032 | PGS000352 (PRS_HGS) |
PSS000524| European Ancestry| 18,935 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |
Reported Trait: Ovarian cancer in BRCA1 carriers | HR: 1.32 [1.25, 1.4] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
PPM001033 | PGS000352 (PRS_HGS) |
PSS000528| European Ancestry| 12,339 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |
Reported Trait: Ovarian cancer in BRCA2 carriers | HR: 1.43 [1.29, 1.59] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
PPM001036 | PGS000352 (PRS_HGS) |
PSS000530| European Ancestry| 3,152 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |
Reported Trait: Incident ovarian cancer in BRCA1 carriers | HR: 1.28 [1.06, 1.55] | — | — | family history of the appropriate cancer in first- and second-degree relatives | — |
PPM001037 | PGS000352 (PRS_HGS) |
PSS000532| European Ancestry| 2,495 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |
Reported Trait: Incident ovarian cancer in BRCA2 carriers | HR: 1.45 [1.13, 1.86] | — | — | family history of the appropriate cancer in first- and second-degree relatives | — |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
---|---|---|---|---|---|---|---|---|
PSS000532 | To assess associationss between the PRS and ovarian cancer risk, eligibility was restricted to women who had not been diagnosed with ovarian cancer and had not had RRSO at the time of baseline questionnaire completion. Carriers diagnosed with invasive ovarian, fallopian tbe, or peritoneal cancer during the follow-up were considered affected. | — | [ ,
0.0 % Male samples |
— | European | — | 61 cohorts
|
— |
PSS000528 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
PSS000530 | To assess associationss between the PRS and ovarian cancer risk, eligibility was restricted to women who had not been diagnosed with ovarian cancer and had not had RRSO at the time of baselinne questionnaire completion. Carriers diagnosed with invasive ovarian, fallopian tube, or peritoneal cancer during the follow-up were considered affected. | — | [ ,
0.0 % Male samples |
— | European | — | 61 cohorts
|
— |
PSS000524 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |